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rarediseaseadvisor.bsky.social
Rare Disease Advisor
@rarediseaseadvisor.bsky.social
110 followers 290 following 270 posts
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.

https://www.rarediseaseadvisor.com/
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rarediseaseadvisor.bsky.social
A complicated relationship with "care"... 💙

Jaimie Sheil, CIDP Contributor, shares how living with a rare disease changed her understanding of the word.

✨ Read Jaimie’s full story: https://bit.ly/4pwCpGb

#RareDisease #CIDP #RareVoices
November 28, 2025 at 9:14 PM
rarediseaseadvisor.bsky.social
Higher in-hospital mortality, longer stays, and higher #HealthcareCosts were observed among patients with #Hemophilia undergoing coronary artery bypass grafting (#CABG). Results in @ahajournals.bsky.social

Read here: https://bit.ly/4pcviTy

#RareDisease #MedSky #Cardiology
Hemophilia Linked to Increased In-Hospital Mortality, Resource Use After CABG
An analysis of patient outcomes after coronary artery bypass grafting showed mortality was 10.6% among those with hemophilia compared with 2.5% in controls.
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November 28, 2025 at 8:08 PM
rarediseaseadvisor.bsky.social
Among patients with #FNAIT, antihuman platelet antigen antibodies exhibit functional heterogeneity, which can lead to difficulties in predicting disease severity.

Learn more: https://bit.ly/3M1dM6f

#RareDisease #MedSky
Diversity of Anti-HPA-1a Antibodies Offers New Insight Into FNAIT Pathology
The diversity of HPA antibodies, associated with variations in epitope specificity and functional effects, can make it difficult to predict FNAIT severity.
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November 28, 2025 at 6:58 PM
rarediseaseadvisor.bsky.social
A dedicated familial pulmonary fibrosis (FPF) service identified a high prevalence of first-degree relatives potentially at risk of developing #InterstitialLungDisease (ILD), including #ProgressivePulmonaryFibrosis (PPF). @btsrespiratory.bsky.social

Learn more: https://bit.ly/48jkImP

#RareDisease
Targeted Approach Identifies Family Members at Risk of Familial PF
Genetic testing identified a high prevalence of first-degree relatives potentially at risk of developing interstitial lung disease like PPF.
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November 28, 2025 at 3:46 PM
rarediseaseadvisor.bsky.social
Venetoclax–obinutuzumab (#VenObi) demonstrated durable disease control with partial but steady immune restoration through 48 months. @ash.hematology.org

Read more: https://bit.ly/482ZHOf

#RareDisease #ChronicLymphocyticLeukemia #CLL #Hematology
Sustained CLL Clearance With Ven-Obi Supports Durable Immune Recovery
Fixed-duration venetoclax–obinutuzumab sustained chronic lymphocytic leukemia (CLL) cell depletion while permitting measured immune recovery.
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November 28, 2025 at 3:05 PM
rarediseaseadvisor.bsky.social
🚵 Bruce Campbell, Pompe Disease contributor, reflects on racing a 7-day gravel stage race spanning 800 kilometers and 11,000 meters of elevation and how it pushed him to new lengths.

Read Bruce’s full story: https://bit.ly/3KolrLm

#RareDisease #PatientVoices #PompeDisease
November 27, 2025 at 9:06 PM
rarediseaseadvisor.bsky.social
Researchers have developed a novel, comprehensive, machine learning-based prognostic model to predict post-transplant outcomes in patients with #Myelofibrosis (MF) who have received Janus kinase (#JAK) inhibitors.

Read here: https://bit.ly/3LY62lw

#RareDisease #JAKInhibitors #MedSky
New Prognostic Model Developed for Myelofibrosis Transplant Outcomes
The new AI-based model is designed to improve on existing tools for predicting outcomes in patients with MF undergoing allo-HCT.
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November 27, 2025 at 7:51 PM
rarediseaseadvisor.bsky.social
Researchers developed a #MachineLearning model that can be used to differentiate between immunoglobulin G4-related disease (#IgG4RD) associated with #Sialadenitis and primary Sjögren’s syndrome (#pSS). Study in International Dental Journal.

Read more: https://bit.ly/3XTW4UI

#RareDisease #MedSky
ML Model Differentiates Between IgG4-Related Sialadenitis, Primary Sjögren's Syndrome
Researchers developed a machine learning model to help differentiate between IgG4-related sialadenitis and primary Sjögren's syndrome.
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November 27, 2025 at 5:13 PM
rarediseaseadvisor.bsky.social
Low serum #TestosteroneLevels in men with #FibroticInterstitialLungDisease, including #ProgressivePulmonaryFibrosis (PPF), have been associated with an increased risk of mortality compared to patients with normal testosterone levels. @btsrespiratory.bsky.social

Read here: https://bit.ly/3JYsMBk
Men With Low Testosterone and f-ILD Exhibit Increased Mortality Risk
In the STARSHIP cohort, patients with f-ILD and low testosterone levels had higher mortality even after confounder adjustment.
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November 27, 2025 at 3:52 PM
rarediseaseadvisor.bsky.social
#HDFN remained the leading indication for exchange transfusion, accounting for 67% of cases, primarily driven by anti-D alloimmunization (65.9%).

Read here: https://bit.ly/4iqJaHq

#RareDisease #Hematology #MedSky
Neonatal Exchange Transfusions Decline in Serbia, Anti-D Alloimmunization Persists
Neonatal exchange transfusions in Serbia have declined over 23 years, yet anti-D alloimmunization in RhD-negative mothers, a key cause of HDFN, persists.
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November 26, 2025 at 5:45 PM
rarediseaseadvisor.bsky.social
The eyes of patients with #NMOSD appear to exhibit significantly thinner #ChoroidalThickness and smaller total choroidal and luminal areas than eyes of patients with #MultipleSclerosis (MS), regardless of #OpticNeuritis history.

Learn more: https://bit.ly/4p1MYBi

#RareDisease #MedSky
EDI-OCT Suggests Choroidal Structural Differences Between NMOSD and MS
The eyes of patients with NMOSD appear to exhibit significantly thinner choroidal thickness than the eyes of patients with multiple sclerosis (MS).
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November 26, 2025 at 5:14 PM
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Happy HallowThankMas! 🎃 🦃 🎄

ATTR-CM Contributor Faye Adams is celebrating the season a little differently this year — by creating moments whenever she can, not just when the calendar says it’s time.

✨Read more here: https://bit.ly/47ZFb10

#RareDisease #ATTRCM #RareVoices #MedSky
November 26, 2025 at 3:47 PM
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A woman with indolent #SystemicMastocytosis presented with #Anaphylaxis following consumption of ackee fruit. Case report in @annalsacaai.bsky.social

Read here: https://bit.ly/4oguPOW

#RareDisease #MedSky #Immunology
Postprandial Illness May Mask Systemic Mastocytosis: A Case Report
An unusual case has been reported of a woman with indolent SM who presented with anaphylaxis following consumption of ackee fruit.
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November 25, 2025 at 8:06 PM
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Immunoglobulin G4-related disease (#IgG4RD) is associated with distinct allergen-specific IgE and IgG4 signatures, with certain environmental antigens linked to organ-specific involvement. Study in @allergy-eaaci.bsky.social

Read here: https://bit.ly/43SpXbH

#RareDisease #MedSky
Distinct Allergen-Specific IgE, IgG4 Signatures Define Organ Involvement in IgG4-RD
New research showed that IgG4-RD features distinct allergen-specific IgE and IgG4 signatures, with some environmental antigens tied to organ involvement.
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November 25, 2025 at 6:53 PM
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❄️ Cold weather isn’t a winter wonderland for everyone. For FA Contributor Lauren Gaczhias, it means extra challenges and big adjustments to her daily routine.

Read Lauren’s full column: https://bit.ly/4ofFppm

#RareDisease #RareVoices #FriedreichAtaxia #PatientVoices
November 25, 2025 at 6:00 PM
rarediseaseadvisor.bsky.social
In patients with indolent #SystemicMastocytosis (SM), treatment with #Avapritinib has been associated with statistically significant, clinically meaningful improvements in dermatologic manifestations of the disorder. Findings from the #PIONEER trial (#NCT03731260)

Learn more: https://bit.ly/4iqRVS0
Avapritinib Linked to Sustained Improvements in Skin Manifestations of Indolent SM
Patients with indolent SM and dermatologic involvement treated with avapritinib saw marked reductions in skin symptoms, skin color, and skin lesions.
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November 25, 2025 at 5:40 PM
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Clinical symptoms, serum biomarkers, and imaging parameters worsened substantially after 2 years in patients with transthyretin-mediated amyloid cardiomyopathy (#ATTRCM), whether or not they were treated with #Tafamidis. Study in Clinical Research in Cardiology.

Read more: https://bit.ly/4pun9d5
Tafamidis May Slow the Progression of ATTR-CM
Clinical symptoms, serum biomarkers, and imaging parameters worsened substantially after 2 years in patients with ATTR-CM, per a recent study.
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November 25, 2025 at 4:44 PM
rarediseaseadvisor.bsky.social
Patients with #Myelofibrosis (MF) are at substantially higher risk for pulmonary complications, especially bronchiolitis obliterans syndrome (#BOS), after hematopoietic cell transplantation (#HCT). Study in @astct.bsky.social

Read more: https://bit.ly/48hbqr8

#RareDisease #MF #Pulmonology
Patients With MF Face Increased Risk of Pulmonary Complications After HCT
Patients with MF are at substantially higher risk for pulmonary complications after hematopoietic cell transplantation.
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November 25, 2025 at 3:25 PM
rarediseaseadvisor.bsky.social
#MyelodysplasticSyndromes were independently associated with substantially elevated risks of ischemic heart disease, stroke, heart failure (HF), atrial fibrillation, and a composite cardiovascular outcome in a nationwide Japanese cohort. @cjcjournals.bsky.social

Learn more: https://bit.ly/4rm3YnF
MDS Identified as a Driver of Higher Cardiovascular Event Risk
MDS independently increased risks of ischemic heart disease, stroke, heart failure, atrial fibrillation, and composite CVD, a study found.
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November 21, 2025 at 9:41 PM
rarediseaseadvisor.bsky.social
Respiratory failure, a classic complication of #MyastheniaGravis (MG), also continues to have a growing impact on patient survival.

Read here: https://bit.ly/49tLRph

#RareDisease #RespiratoryFaliure #MedSky
Vascular Disease Reported to Be a Rising Cause of Death in MG
Vascular disease appears to be a rising cause of death among patients with myasthenia gravis (MG), according to a new study.
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November 21, 2025 at 6:57 PM
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Investigators have found that baseline T-cell activation patterns may predict which patients with immunoglobulin G4-related disease (#IgG4RD) are more likely to respond to #Abatacept, according to a letter to the editor in the European Journal of Internal Medicine.

Read more: https://bit.ly/3Me1kzY
Peripheral T Lymphocyte Activation State May Predict Abatacept Response in IgG4-RD
New research showed that patients with rare variants affecting the CTLA-4 pathway were more likely to respond to abatacept than those without the variants.
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November 21, 2025 at 6:09 PM
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Researchers developed a well-designed natural language processing (NLP) algorithm that can accurately extract #SystemicMastocytosis (SM)-related symptoms from unstructured clinical notes. Study in JAMIA Open.

Read more: https://bit.ly/4rvOyxh

#MedSky #RareDisease
New NLP Algorithm Accurately Detects SM Symptoms in Clinical Notes
Researchers developed a natural language processing algorithm that can accurately extract SM-related symptoms from unstructured clinical notes.
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November 21, 2025 at 5:09 PM
rarediseaseadvisor.bsky.social
Screening and preventive strategies for both hepatitis B virus (#HBV) and latent tuberculosis infection (#LTBI) are needed in the management of neuromyelitis optica spectrum disorder (#NMOSD). Study in Multiple Sclerosis and Related Disorders.

Learn more: https://bit.ly/4pmZg7h

#MedSky #NeuroSky
Patients With NMOSD May Need Monitoring for Hepatitis B and TB Reactivation
Screening strategies for both HBV and latent tuberculosis infection (LTBI) are needed in NMOSD management.
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November 20, 2025 at 9:38 PM
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Patients with chronic inflammatory demyelinating polyneuropathy (#CIDP) have reduced #SleepEfficacy and increased nocturnal arousals. Study in @europeanjournalofneurology.ean.org

Read here: https://bit.ly/4rgSsKc

#RareDisease #MedSky
Study Shows CIDP Negatively Affects Sleep
Patients with chronic inflammatory demyelinating polyneuropathy (CIDP) have reduced sleep efficacy and increased nocturnal arousals, according to a new study.
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November 20, 2025 at 9:08 PM
rarediseaseadvisor.bsky.social
An antimalarial drug, #Dihydroartemisinin (DHA), may restore antitumor activity of #Doxorubicin (DOX) in patients with #HepatocellularCarcinoma (HCC) with DOX resistance. Published in Digestive Diseases and Sciences.

Read more: https://bit.ly/48cAjVf

#RareDisease #MedSky
Dihydroartemisinin May Enhance Antitumor Activity of Doxorubicin in HCC
In preclinical cell and animal models, DHA and DOX were effective against HCC progression, and their combined use amplified these effects.
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November 20, 2025 at 5:55 PM